rs794727572
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(AG;AG) | 0 | common in clinvar |
Make rs794727572(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 52022855 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727572 |
dbSNP (classic) | rs794727572 |
ClinGen | rs794727572 |
ebi | rs794727572 |
HLI | rs794727572 |
Exac | rs794727572 |
Gnomad | rs794727572 |
Varsome | rs794727572 |
LitVar | rs794727572 |
Map | rs794727572 |
PheGenI | rs794727572 |
Biobank | rs794727572 |
1000 genomes | rs794727572 |
hgdp | rs794727572 |
ensembl | rs794727572 |
geneview | rs794727572 |
scholar | rs794727572 |
rs794727572 | |
pharmgkb | rs794727572 |
gwascentral | rs794727572 |
openSNP | rs794727572 |
23andMe | rs794727572 |
SNPshot | rs794727572 |
SNPdbe | rs794727572 |
MSV3d | rs794727572 |
GWAS Ctlg | rs794727572 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs794727572(-;-) |
Alt | rs794727572(-;-) |
Reference | Rs794727572(AG;AG) |
Significance | Pathogenic |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 1 |
HGVS | NC_000006.11:g.51887653_51887654delCT |
CLNSRC | |
CLNACC | RCV000177755.1, |